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Table 3 Mutation sites of mtDNA in MIEH individuals and controls

From: Associations of mitochondrial DNA 3777–4679 region mutations with maternally inherited essential hypertensive subjects in China

Site of mutation Gene Replacement Homoplasmic/heteroplasmic variants Number of mutations(n) P value Previously reporteda Change of Amino acid
     (MIEH) (Controls)    
3902 ND1 A to T heteroplasmic 1 0 1 NO non-syn;D-V
3905 ND1 T to A heteroplasmic 1 0 1 NO Non-syn: L-H
3915 ND1 G to A homoplasmic 6 1 0.1234 YES Syn: G-G
3918 ND1 A to G homoplasmic 3 1 0.6241 YES Syn: E-E
3941 ND1 A to G homoplasmic 1 0 1 NO Non-syn: N-S
3948 ND1 A to G homoplasmic 1 0 1 YES Syn:E-E
3970 ND1 C to T homoplasmic 67 5 4.72e-16 YES Syn:L-L
4017 ND1 C to T homoplasmic 1 0 1 YES Syn:L-L
4025 ND1 C to T homoplasmic 3 1 0.6241 YES Non-syn: T-M
4038 ND1 A to G homoplasmic 2 0 0.4994 YES Syn:G-G
4047 ND1 T to C homoplasmic 1 0 1 YES Syn:Y-Y
4048 ND1 G to A homoplasmic 20 2 9.93e-05 YES Non-syn: D-N
4071 ND1 C to T homoplasmic 24 2 7.77e-06 YES Syn:Y-Y
4083 ND1 T to C homoplasmic 1 0 1 YES Syn:F-F
4086 ND1 C to T homoplasmic 19 1 3.29e-05 YES Syn:V-V
4092 ND1 G to A homoplasmic 1 0 1 YES Syn:K-K
4093 ND1 A to G homoplasmic 1 0 1 YES Non-syn: T-A
4104 ND1 A to G homoplasmic 1 0 1 YES Syn:L-L
4113 ND1 G to A homoplasmic 1 0 1 YES Syn:L-L
4116 ND1 C to T homoplasmic 1 0 1 YES Syn:F-F
4117 ND1 T to C homoplasmic 1 0 1 YES Syn:L-L
4129 ND1 A to G homoplasmic 3 0 0.2491 YES Non-syn: T-A
4131 ND1 A to T heteroplasmic 1 0 1 NO Syn:T-T
4134 ND1 A to T heteroplasmic 1 0 1 NO syn: A-A
4135 ND1 T to C homoplasmic 1 0 1 YES Non-syn: Y-H
4136 ND1 A to G homoplasmic 1 0 1 YES Non-syn: Y-H
4140 ND1 C to T homoplasmic 1 0 1 YES Syn:P-P
4161 ND1 C to T homoplasmic 1 0 1 YES Syn:L-L
4164 ND1 A to G homoplasmic 14 1 8.83e-4 YES Syn:M-M
4170 ND1 C to T homoplasmic 1 0 1 YES Syn:L-L
4176 ND1 A to G homoplasmic 2 0 0.4994 YES Syn:W-W
4200 ND1 A to T heteroplasmic 2 0 0.4994 YES Syn:L-L
4203 ND1 A to G homoplasmic 4 0 0.1241 YES Syn:A-A
4216 ND1 T to C homoplasmic 4 0 0.1241 YES Non-syn: Y-H
4227 ND1 A to G homoplasmic 1 0 1 YES syn: M-M
4233 ND1 T to C homoplasmic 1 0 1 YES Non-syn: I-T
4245 ND1 C to T homoplasmic 2 0 0.4994 YES Syn:S-S
4248 ND1 T to C homoplasmic 39 2 3.25e-10 YES Syn:I-I
4254 ND1 T to C homoplasmic 1 0 1 YES Syn:P-P
4314 tRNAIle T to C homoplasmic 4 0 0.1241 YES tRNA
4317 tRNAIle A to G homoplasmic 2 0 0.4994 YES tRNA
4336 tRNAGln T to C homoplasmic 1 0 1 YES tRNA
4386 tRNAGln T to C homoplasmic 8 0 0.0075 YES tRNA
4394 tRNAGln C to T homoplasmic 10 0 0.0018 YES tRNA
4401 tRNAMet A to G homoplasmic 1 0 1 NO tRNA
4435 tRNAMet A to G homoplasmic 1 0 1 YES tRNA
4452 tRNAMet T to C homoplasmic 1 0 1 YES tRNA
4457 tRNAMet C to A heteroplasmic 1 0 1 NO tRNA
4491 ND2 G to A homoplasmic 4 1 0.3734 YES Non-syn: V-I
4515 ND2 G to C heteroplasmic 1 0 1 NO Non-syn: G-R
4535 ND2 A to C heteroplasmic 2 0 0.4994 NO Syn:L-L
4562 ND2 A to G homoplasmic 2 0 0.4994 YES Syn:V-V
4563 ND2 G to T heteroplasmic 1 0 1 NO Syn:G-C
4563 ND2 delG   3 0 0.2491 YES  
4574 ND2 A to T heteroplasmic 1 0 1 NO Syn:M-M
4576 ND2 delA   1 0 1 YES  
4580 ND2 G to A homoplasmic 1 0 1 YES Syn:M-M
4611 ND2 delA   10 0 0.0018 YES  
4612 ND2 delT   2 0 0.4994 YES  
  1. aSee https://www.mitomap.org/MITOMAP